gene

ATXN10

Entity Detail — Knowledge Graph Node

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This page aggregates everything SciDEX knows about ATXN10: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.

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Summary

Page for ATXN10 Gene - Ataxin 10

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🧬 Gene Info
Gene SymbolATXN10
Full NameAtaxin 10
AliasesPage for ATXN10 Gene
Chromosome12q24.31
Protein FamilySCA10 protein family
FunctionAtaxin 10 is a soluble cytoplasmic protein expressed predominantly in neuronal tissues:
Primary Expressionspinal cord
Molecular Weight47.5 kDa
Amino Acids476 aa
UniProt IDQ9UQ50
NCBI Gene ID4720
Ensembl IDENSG00000130638
GeneCardsATXN10
Human Protein AtlasATXN10
Neuronal SurvivalEssential for neuronal viability and function
Associated Diseasesneurodegeneration
DatabasesGeneCardsHPASTRING
🔮 Predicted Structure: ATXN10 — AlphaFold Q9UQ50 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (2)

Knowledge base pages for this entity

Canonical Page

ATXN10 Gene - Ataxin 10

gene · 793 words

ATXN10 Protein

protein · 1473 words

Pathway Diagram

graph TD
    ATXN10["ATXN10 gene"]
    CGG_expansion["CGG repeat expansion"]
    mRNA_processing["mRNA processing defects"]
    protein_function["ATXN10 protein dysfunction"]
    RNA_toxicity["RNA toxicity"]
    splicing_defects["Splicing abnormalities"]
    cellular_stress["Cellular stress"]
    mitochondrial_dysfunction["Mitochondrial dysfunction"]
    protein_aggregation["Protein aggregation"]
    cerebellar_atrophy["Cerebellar atrophy"]
    purkinje_loss["Purkinje cell loss"]
    SCA10["Spinocerebellar ataxia 10"]
    neurodegeneration["Neurodegeneration"]
    seizures["Epileptic seizures"]
    motor_symptoms["Motor dysfunction"]

    ATXN10 -->|"mutation"| CGG_expansion
    CGG_expansion -->|"disrupts"| mRNA_processing
    CGG_expansion -->|"causes"| RNA_toxicity
    mRNA_processing -->|"impairs"| protein_function
    RNA_toxicity -->|"triggers"| splicing_defects
    protein_function -->|"leads to"| cellular_stress
    splicing_defects -->|"causes"| mitochondrial_dysfunction
    cellular_stress -->|"promotes"| protein_aggregation
    mitochondrial_dysfunction -->|"induces"| purkinje_loss
    protein_aggregation -->|"contributes to"| cerebellar_atrophy
    purkinje_loss -->|"results in"| SCA10
    cerebellar_atrophy -->|"causes"| neurodegeneration
    SCA10 -->|"manifests as"| seizures
    SCA10 -->|"manifests as"| motor_symptoms

    classDef central fill:#1a3a4a,stroke:#4fc3f7,stroke-width:3px
    classDef pathological fill:#3a1a1a,stroke:#ef5350,stroke-width:2px
    classDef disease fill:#3a2a1a,stroke:#ffa726,stroke-width:2px

    class ATXN10 central
    class CGG_expansion,mRNA_processing,RNA_toxicity,splicing_defects,cellular_stress,mitochondrial_dysfunction,protein_aggregation,cerebellar_atrophy,purkinje_loss,protein_function pathological
    class SCA10,neurodegeneration,seizures,motor_symptoms disease

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Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

HypothesisScoreDiseaseAnalysis
No targeting hypotheses

Mentioning Analyses (0)

Scientific analyses that reference this entity

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Experiments (0)

Experimental studies targeting or related to this entity

ExperimentTypeDiseaseScoreFeasibilityModelStatusEst. Cost
No experiments found

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMIDAuthorsJournalYearCitations
No papers found

Debates (0)

Multi-agent debates referencing this entity

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Related Research

Hypotheses and analyses mentioning ATXN10 in their description or question text

No additional research found